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Rett syndrome - biological pathways leading from MECP2 to disorder phenotypes

Orphanet journal of rare diseases, 2016-11, Vol.11 (1), p.158-158, Article 158

2016

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A novel insight into neurological disorders through HDAC6 protein–protein interactions

Scientific reports, 2024-06, Vol.14 (1), p.14666-14, Article 14666

2024

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A resource to explore the discovery of rare diseases and their causative genes

Scientific data, 2021-05, Vol.8 (1), p.124-124, Article 124

2021

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A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration

Scientific data, 2021-01, Vol.8 (1), p.10-10, Article 10

2021

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Glutamatergic markers, age, intellectual functioning and psychosis in 22q11 deletion syndrome

Psychopharmacology, 2015-09, Vol.232 (18), p.3319-3325

2015

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Understanding the Social Stigma of Fetal Alcohol Spectrum Disorders: From Theory to Interventions

Foundations of science, 2022-06, Vol.27 (2), p.753-771

2022

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Current developments in the genetics of Rett and Rett-like syndrome

Current opinion in psychiatry, 2018-03, Vol.31 (2), p.103-108

2018

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Identifying Effective Methods for Teaching Sex Education to Individuals With Intellectual Disabilities: A Systematic Review

The Journal of sex research, 2015-05, Vol.52 (4), p.412-432

2015

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Triple X syndrome: a review of the literature

European journal of human genetics : EJHG, 2010-03, Vol.18 (3), p.265-271

2010

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Extracellular Vesicles in CNS Developmental Disorders

International journal of molecular sciences, 2020-12, Vol.21 (24), p.9428

2020

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Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion

Acta neuropathologica, 2024-06, Vol.147 (1), p.64, Article 64

2024

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Aging in Prader-Willi syndrome: Twelve persons over the age of 50 years

American journal of medical genetics. Part A, 2012-06, Vol.158A (6), p.1326-1336

2012

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Exogenous melatonin for sleep problems in individuals with intellectual disability: a meta‐analysis

Developmental medicine and child neurology, 2009-05, Vol.51 (5), p.340-349

2009

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Development of consensus-based guidelines for managing communication of individuals with Rett syndrome

Augmentative and alternative communication, 2020-04, Vol.36 (2), p.71-81

2020

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Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey

Orphanet journal of rare diseases, 2024-08, Vol.19 (1), p.296-14, Article 296

2024

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Loss of response to melatonin treatment is associated with slow melatonin metabolism

Journal of intellectual disability research, 2010-06, Vol.54 (6), p.547-555

2010

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Exploring the Development of Existing Sex Education Programmes for People with Intellectual Disabilities: An Intervention Mapping Approach

Journal of applied research in intellectual disabilities, 2013-03, Vol.26 (2), p.157-166

2013

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The role of Extracellular Vesicles during CNS development

Progress in neurobiology, 2021-10, Vol.205, p.102124-102124, Article 102124

2021

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Why the dim light melatonin onset (DLMO) should be measured before treatment of patients with circadian rhythm sleep disorders

Sleep medicine reviews, 2014-08, Vol.18 (4), p.333-339

2014

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Physical health problems in adults with Prader-Willi syndrome

American journal of medical genetics. Part A, 2011-09, Vol.155A (9), p.2112-2124

2011

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Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice

American journal of medical genetics. Part A, 2012-02, Vol.158A (2), p.340-350

2012

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Psychiatric illness in a cohort of adults with Prader-Willi syndrome

Research in developmental disabilities, 2011-09, Vol.32 (5), p.1729-1735

2011

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Behavioral phenotype in adults with Prader–Willi syndrome

Research in developmental disabilities, 2011-03, Vol.32 (2), p.604-612

2011

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Identifying the important factors associated with teaching sex education to people with intellectual disability: A cross-sectional survey among paid care staff

Journal of intellectual & developmental disability, 2014-04, Vol.39 (2), p.157-166

2014

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Eye Gaze Technology as a Form of Augmentative and Alternative Communication for Individuals with Rett Syndrome: Experiences of Families in The Netherlands

Journal of developmental and physical disabilities, 2016-02, Vol.28 (1), p.101-112

2016

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Rett syndrome - biological pathways leading from MECP2 to disorder phenotypes

A novel insight into neurological disorders through HDAC6 protein–protein interactions

A resource to explore the discovery of rare diseases and their causative genes

A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration

Glutamatergic markers, age, intellectual functioning and psychosis in 22q11 deletion syndrome

Understanding the Social Stigma of Fetal Alcohol Spectrum Disorders: From Theory to Interventions

Current developments in the genetics of Rett and Rett-like syndrome

Identifying Effective Methods for Teaching Sex Education to Individuals With Intellectual Disabilities: A Systematic Review

Triple X syndrome: a review of the literature

Extracellular Vesicles in CNS Developmental Disorders

Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion

Aging in Prader-Willi syndrome: Twelve persons over the age of 50 years

Exogenous melatonin for sleep problems in individuals with intellectual disability: a meta‐analysis

Development of consensus-based guidelines for managing communication of individuals with Rett syndrome

Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey

Loss of response to melatonin treatment is associated with slow melatonin metabolism

Exploring the Development of Existing Sex Education Programmes for People with Intellectual Disabilities: An Intervention Mapping Approach

The role of Extracellular Vesicles during CNS development

Why the dim light melatonin onset (DLMO) should be measured before treatment of patients with circadian rhythm sleep disorders

Physical health problems in adults with Prader-Willi syndrome

Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice

Psychiatric illness in a cohort of adults with Prader-Willi syndrome

Behavioral phenotype in adults with Prader–Willi syndrome

Identifying the important factors associated with teaching sex education to people with intellectual disability: A cross-sectional survey among paid care staff

Eye Gaze Technology as a Form of Augmentative and Alternative Communication for Individuals with Rett Syndrome: Experiences of Families in The Netherlands

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